Publications by authors named "Agnes Rotig"

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ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndrome.
Pauline Planté-Bordeneuve, Claire-Marine Bérat, Sylvain Hanein, Cyril Gitiaux,

Dev Med Child Neurol· February 2026

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Pleiotropic effects of MORC2 derive from its epigenetic signature.
Fatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, Robert Kopajtich, Masahiro Ando

Brain· January 2026

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MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.
Daniele Mandia, Metodi D Metodiev, Jean-François Benoist, Pauline Gaignard, Benedetta Ruzzenente

J Inherit Metab Dis· January 2026

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Childhood POLG-related disorders: Focus on polyradiculoneuropathy.
Claire-Marine Bérat, Marie Hully, Agnès Rötig, Giulia Barcia, Zahra Assouline

Mol Genet Metab· October 2025

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Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.
Luisa Marsili, Matthieu Mantecon, Christelle Arrondel, Giulia Barcia, Zahra Assouline, Agnes Rotig

Pediatr Nephrol· September 2025

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The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseases.
Claire Almyre, Nolwenn Bounaix, François Godard, Olivier R Baris, Anne-Louise Cayer

Hum Mol Genet· June 2025

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Tissue-specific mitochondrial DNA, pathogenic variants in mitochondrial myopathies.
Sylvia Rose, Aurélien Trimouille, Didier Lacombe, Edoardo Malfatti, Zahra Assouline

Mol Genet Metab Rep· June 2025

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Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders.
Paula Rubens, Anne Mayeur, Kalliopi Chatzovoulou, Nadine Gigarel, Sophie Monnot

Hum Reprod· May 2025

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Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Agnès Rötig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat

Neurol Genet· August 2024

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Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama

Nat Metab· June 2024

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Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic Gene Mutations in Infancy.
Charles-Joris Roux, Claire-Marine Dufeu-Berat, Marie Hully, Agnes Rotig, Manuel Schiff

Neurology· June 2024

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Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic Variants.
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes A van Gemert, Mélodie Aubart, Agnes Rotig

Neurol Genet· April 2024

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Successful treatment of severe MSUD in Bckdhb mice with neonatal AAV gene therapy.
Clément Pontoizeau, Clovis Gaborit, Nolan Tual, Marcelo Simon-Sola, Irina Rotaru

J Inherit Metab Dis· January 2024

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Recurrent "outsider" intronic variation in the 6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron

Front Genet· January 2024

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch

Genet Med· June 2023

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch

Genet Med· June 2023

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Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Lucile Boutaud, Benedetta Ruzzenente, Aude Tessier, Olivia Anselem, Emmanuelle Pannier

Brain· May 2023

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A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
Kalliopi Chatzovoulou, Anne Mayeur, Nicolas Cagnard, Mohammed Zarhrate, Christine Bole

Hum Reprod· May 2023

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Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline

Life (Basel)· February 2023

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Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard

Ann Neurol· July 2022

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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru

Nat Commun· June 2022

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Biallelic variants in are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex

HGG Adv· April 2022

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith

Genome Med· April 2022

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Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
Alessandra Torraco, Reza Maroofian, Agnès Rötig, Enrico Bertini, Daniele Ghezzi

Hum Mutat· January 2022

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Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.
Juliette Pulman, Benedetta Ruzzenente, Martin Horak, Giulia Barcia, Nathalie Boddaert

Mol Genet Metab· November 2021

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